V. Benoit

发表

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

M. Digilio, B. Grisart, B. Dallapiccola, 2012, American journal of human genetics.

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia

V. Benoit, I. Maystadt, M. Cassart, 2019, Clinical case reports.

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

E. Colin, D. Bonneau, A. Ziegler, 2018, European journal of medical genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

H. Pendeville, D. Lederer, V. Benoit, 2016, American journal of medical genetics. Part A.

Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance

R. Wintjens, V. Benoit, I. Maystadt, 2022, Frontiers in Endocrinology.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Z. Tümer, K. Bhatia, H. Lerche, 2022, Clinical genetics.

Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants

H. Pendeville, L. Faivre, C. Philippe, 2021, Human mutation.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

R. Pfundt, B. D. de Vries, M. Shinawi, 2021, Genetics in Medicine.

DYRK1A mutations in two unrelated patients.

C. Depienne, D. Lederer, V. Benoit, 2015, European journal of medical genetics.

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

R. Touraine, A. Verloes, F. Ramond, 2020, Clinical genetics.

Identification of an NPHP1 deletion causing adult form of nephronophthisis

K. Dahan, B. Grisart, V. Benoit, 2016, Irish Journal of Medical Science (1971 -).

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

V. Benoit, I. Maystadt, M. Deprez, 2014, European journal of medical genetics.

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant

G. Garraux, G. Lenaers, B. Wagner, 2022, Frontiers in Neurology.

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

A. Vénisse, K. Dahan, X. Jeunemaître, 2018, Kidney international.

Antenatal diagnosis of CHARGE syndrome: prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.

P. Bernard, V. Benoit, P. Baldin, 2021, European journal of medical genetics.

STXBP1 encephalopathy

P. Striano, K. Sleegers, G. Cantalupo, 2016, Neurology.

Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

V. Benoit, H. Kamoun, M. Hachicha, 2019, Acta clinica Belgica.

Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.

V. Benoit, I. Ouertani, L. Kraoua, 2017, International journal of pediatric otorhinolaryngology.

FOXP1-related intellectual disability syndrome: a recognisable entity

J. Sebat, C. Corsello, T. de Ravel, 2017, Journal of Medical Genetics.

Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation

D. Lederer, V. Benoit, I. Maystadt, 2018, Clinical case reports.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

M. Shaw, J. Gécz, A. Reis, 2016, Journal of Medical Genetics.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)

B. Grisart, H. Stewart, G. Mancini, 2015, Clinical genetics.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Soo-Mi Park, K. Lachlan, D. Fitzpatrick, 2015, American journal of medical genetics. Part A.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Speech and language in a genotyped cohort of individuals with Kabuki syndrome

M. Bamshad, A. Morgan, K. Buckingham, 2015, American journal of medical genetics. Part A.

A three generation X‐linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A

D. Lederer, V. Benoit, I. Maystadt, 2014, American journal of medical genetics. Part A.

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

V. Quesada, Diana A. Puente, C. López-Otín, 2016, Journal of Medical Genetics.

A second case of Okamoto syndrome caused by HNRNPK mutation

V. Benoit, I. Maystadt, M. Deprez, 2020, American journal of medical genetics. Part A.

Uncommon Leber “Plus” Disease Associated With Mitochondrial Mutation m.11778G>A in a Premature Child

V. Benoit, I. Maystadt, F. Meire, 2014, Journal of child neurology.

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome

K. Dahan, Y. Pirson, V. Benoit, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy

E. Huang, P. Striano, D. Rowitch, 2023, Neurology.

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

S. Seneca, V. Dideberg, K. Claes, 2021, JMIR medical informatics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Two novel GJA1 variants in oculodentodigital dysplasia

N. Pace, V. Benoit, I. Borg, 2019, Molecular genetics & genomic medicine.

RSK2 mutation co‐segregates with X‐linked intellectual disability and attenuated Coffin–Lowry phenotype in a three‐generation family

A. Hanauer, A. Aeby, D. Lederer, 2014, Clinical genetics.